A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657366



Internal ID9923471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:160984175..160990892hg38UCSC Ensembl
Outerchr1:160984018..160991045hg38UCSC Ensembl
Innerchr1:160953965..160960682hg19UCSC Ensembl
Outerchr1:160953808..160960835hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg387028
hg197028
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5725535, essv5563287, essv6371813, essv5511955, essv6343227, essv6477079
SamplesHG01052, NA19359, NA19448, NA19395, NA18909, NA18511
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657366
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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